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一份关于CEP290突变,视力丧失和发育迟缓的儿童的报告

Esra Sahli1, Pinar Bingol Kiziltunc1, Aysun Idil1

  • 1Department of Ophthalmology, Ankara University, Faculty of Medicine, Ankara, Türkiye.

Beyoglu eye journal
|September 28, 2023
PubMed
概括

CEP290基因的突变会导致儿童严重视力丧失和神经运动延迟. 早期遗传检测对于诊断,管理和获得潜在的基因疗法至关重要.

关键词:
在CEP290突变中.朱伯特综合征是什么?朱伯特综合征是什么?勒贝尔的先天性黄斑病.低视力 低视力 低视力

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